ClinVar Miner

List of variants in gene SKI reported by PreventionGenetics

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003036.4(SKI):c.1211+17C>T rs753878221
NM_003036.4(SKI):c.1211+19C>T rs182600375
NM_003036.4(SKI):c.1212-8C>T rs370921440
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447
NM_003036.4(SKI):c.471G>A (p.Gln157=) rs569206617
NM_003036.4(SKI):c.495C>T (p.Gly165=) rs749438586
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352

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